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NM_015910.7(WDPCP):c.1094A>G (p.Glu365Gly) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 13, 2022
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV003319348.1

Allele description [Variation Report for NM_015910.7(WDPCP):c.1094A>G (p.Glu365Gly)]

NM_015910.7(WDPCP):c.1094A>G (p.Glu365Gly)

Gene:
WDPCP:WD repeat containing planar cell polarity effector [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2p15
Genomic location:
Preferred name:
NM_015910.7(WDPCP):c.1094A>G (p.Glu365Gly)
HGVS:
  • NC_000002.12:g.63404389T>C
  • NG_028144.2:g.441437A>G
  • NM_001042692.3:c.617A>G
  • NM_001354044.2:c.1022A>G
  • NM_001354045.2:c.1094A>G
  • NM_015910.7:c.1094A>GMANE SELECT
  • NP_001036157.1:p.Glu206Gly
  • NP_001340973.1:p.Glu341Gly
  • NP_001340974.1:p.Glu365Gly
  • NP_056994.3:p.Glu365Gly
  • NC_000002.11:g.63631524T>C
  • NM_015910.5:c.1094A>G
  • NR_122106.2:n.741A>G
  • NR_148704.2:n.1552A>G
  • NR_148705.2:n.1300A>G
Protein change:
E206G
Links:
dbSNP: rs201662623
NCBI 1000 Genomes Browser:
rs201662623
Molecular consequence:
  • NM_001042692.3:c.617A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354044.2:c.1022A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354045.2:c.1094A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_015910.7:c.1094A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NR_122106.2:n.741A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148704.2:n.1552A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148705.2:n.1300A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004023548GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Uncertain significance
(Dec 13, 2022) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV004023548.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Observed in an individual with Joubert syndrome in published literature, however a second variant was not identified (Toriyama et al., 2016); Variants in candidate genes are classified as variants of uncertain significance in accordance with ACMG guidelines (Richards et al., 2015); This variant is associated with the following publications: (PMID: 27158779)

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 13, 2024